Varaico: Literature-Extracted Genetic Variants

Gene:GIPC1
Variant:p.P69S

GIPC1

56 papers

RefSeq Summary

GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009].

Pfam Domains

GIPC1_GH1aa 59–125UCSCGIPC1-3 GH1 domain
PDZaa 133–212UCSCPDZ domain
GIPC1_GH2aa 239–328UCSCGIPC1-3 GH2 domain

Gene Aliases

HGNC Name

GIPC PDZ domain containing family member 1

HGNC Previous Symbol

RGS19IP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005716.4
p.P69S
c.205C>T
Surrounding Variants
1 paper
NM_005716.4
p.E74E
c.222G>A
4 papers
NM_005716.4
p.T62A
c.184A>G
1 paper
NM_005716.4
p.T62P
c.184A>C
1 paper
NM_005716.4
p.V59M
c.175G>A
1 paper
NM_005716.4
p.L54Q
c.161T>A
1 paper
NM_005716.4
p.K85R
c.254A>G
1 paper
NM_005716.4
p.P50delFs
c.149delG
1 paper
NM_005716.4
p.P50R
c.149C>G
2 papers
NM_005716.4
p.P50fs
c.148_149fs
1 paper
NM_005716.4
p.P49P
c.147C>T
1 paper
NM_005716.4
p.T94I
c.281C>T
1 paper
NM_005716.4
p.G42G
c.126C>T
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